ReviewInconclusiveLimited evidenceTier 3 · early human
Clinics in perinatology · Mar 2021
neonatal renal tumorsrenal leiomyosarcomarenal cell carcinomatransitional cell carcinomarenal sarcoma
This review summarizes how renal tumors present, are worked up, treated, and what outcomes are reported in the neonatal period. It notes that some lesions are detected prenatally but most present after birth, frequently as a palpable abdominal mass, and that cross-sectional imaging followed by radical nephrectomy is commonly used to obtain a specific histologic diagnosis. The abstract highlights that renal leiomyosarcoma is rare and aggressive with a high tendency for local recurrence and metastasis, and it reviews adult renal cell carcinoma epidemiology and subtypes for context.
Key findings
- Renal tumors are rare in the neonatal period; some may be detected prenatally but a greater proportion present after birth, most often with a palpable abdominal mass with or without other associated symptoms.
- Cross-sectional imaging is typically followed by radical nephrectomy to make a specific histologic diagnosis to determine the need for additional therapy.
- Renal leiomyosarcoma (LMS) is a rare and aggressive mesenchymal tumor that usually arises from smooth muscle cells of intrarenal blood vessels or the renal pelvis.
- Primary renal leiomyosarcomas represent 1%-2% of all malignant renal tumors, have a mean age at presentation of 50–60 years with female preponderance, show a high tendency of local recurrence, frequently metastasize via hematogenous spread, and carry an overall poor prognosis.
- Differentiation of primary renal leiomyosarcoma from sarcomatoid renal cell carcinoma is necessary because prognosis differs.
- Renal cell carcinoma (RCC) is the most common type of cancer arising in the kidney in adults, making up more than 9 out of 10 renal cancers in adults and accounting for over 3% of all adult malignancies; it is most commonly seen between ages 50 to 70 with an approximate 2:1 male to female ratio.
Limitations: Narrative review article; no new primary data or study-level results are presented in the abstract.; Abstract provides no sample sizes, quantitative neonatal outcome data, or details of methods used to identify or synthesize evidence.; Discussion includes adult epidemiology and age ranges that may not be applicable to neonatal patients..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed
ReviewInconclusiveLimited evidenceTier 3 · early human
Clinical cancer research : an official journal of the American Association for Cancer Research · May 2018
pleuropulmonary blastoma (PPB)ovarian sex cord-stromal tumorsSertoli-Leydig cell tumorlung cystscystic nephromarenal sarcomaWilms tumornodular hyperplasia of the thyroidnasal chondromesenchymal hamartomaciliary body medulloepitheliomagenitourinary embryonal rhabdomyosarcomapineoblastomapituitary blastomagastrointestinal polyps
This paper reports an expert consensus from the inaugural International DICER1 Symposium summarizing genetic testing and surveillance recommendations for people with pathogenic germline DICER1 variants. It lists the spectrum of associated tumors and lesions, recommends education and imaging-based surveillance (with emphasis that risks are highest in early childhood and decline in adulthood), and states that guidelines will be updated as research expands.
Key findings
- Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations.
- Associated neoplasms and lesions include pleuropulmonary blastoma (PPB), ovarian sex cord-stromal tumors (particularly Sertoli-Leydig cell tumor), lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma, and brain tumors including pineoblastoma and pituitary blastoma.
- The International PPB Registry convened a multidisciplinary international symposium to develop consensus testing, surveillance, and treatment recommendations.
- Recommendations are provided for genetic testing, prenatal management, and surveillance for DICER1-associated pulmonary, renal, gynecologic, thyroid, ophthalmologic, otolaryngologic, and central nervous system tumors and gastrointestinal polyps.
- Risk for most DICER1-associated neoplasms is highest in early childhood and decreases in adulthood.
- Individual and caregiver education and judicious imaging-based surveillance are the primary recommended approaches.
- These recommendations reflect a consensus of expert opinion and current literature and will be updated as DICER1 research expands.
Limitations: Recommendations are based on expert consensus and existing literature rather than new primary data reported in this article.; Abstract does not present quantitative risk estimates, systematic evidence grading, or methodological details of literature review.; Guidance may change as further research in DICER1-associated conditions emerges..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed · Full text
Human · observationalMechanismReported positiveLimited evidenceTier 3 · early humann = 16
Pediatric radiology · Sep 2017 · retrospective analysis
pleuropulmonary blastomapineoblastomaovarian Sertoli-Leydig cell tumorembryonal rhabdomyosarcomarenal sarcomacystic nephromathyroid nodule/cystrenal cystpineal cyst
This retrospective review analyzed imaging from 16 pediatric patients (≤18 years) with germline DICER1 variants seen from January 2004 to July 2016. The authors report a spectrum of DICER1-associated malignant tumors (in 68.8% of patients) and benign lesions (in 37.5%), and describe a common imaging appearance they call the "cracked windshield" sign. They conclude that early surveillance of at-risk patients is important while minimizing ionizing radiation exposure.
Reported effects: patients included 16, n=16 · female patients 12, n=16 · +13 more
Key findings
- Sixteen patients were included (12 females; mean age at presentation: 4.2years, range: 14days to 17years), with surveillance imaging encompassing chest X-ray and CT; abdominal, pelvic and neck US; and brain and whole-body MRI.
- Malignant lesions (68.8% of patients) included pleuropulmonary blastoma (5), pineoblastoma (3), ovarian Sertoli-Leydig cell tumor (1), embryonal rhabdomyosarcoma (1) and renal sarcoma (1).
- Benign lesions (37.5% of patients) included thyroid cysts (2), thyroid nodules (2), cystic nephroma (2), renal cysts (1) and pineal cyst (1).
- A common lesional appearance observed across modalities and organs was defined as the "cracked windshield" sign.
- Authors suggest early surveillance of at-risk patients while minimizing exposure to ionizing radiation.
Limitations: Retrospective design; Small sample size (n=16); Single tertiary pediatric centre (potential limited generalizability); Descriptive imaging study without control group or assessment of outcomes of surveillance; Possible selection bias from keyword-driven imaging database search and cross-referencing with institutional genetics database.
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed